Linked Data
dbSNP Id:
rs1250003
gnomAD v2:
10-80846814-C-T
gnomAD v3:
10-79087057-C-T
gnomAD v4:
10-79087057-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79087057C>T , CM000672.2:g.79087057C>T | GRCh38 |
| NC_000010.10:g.80846814C>T , CM000672.1:g.80846814C>T | GRCh37 |
| NC_000010.9:g.80516820C>T | NCBI36 |
| NG_028289.1:g.23023C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334512.10:c.-337+17787C>T MANE Select | ENSP00000334474.5:n.-337+17787C>T | |
| ENST00000334512.9:c.-337+17787C>T | ENSP00000334474.5:n.-337+17787C>T | |
| NM_020338.3:c.-337+17787C>T | NP_065071.1:n.-337+17787C>T | |
| XM_005269988.2:c.-337+17787C>T | XP_005270045.1:n.-337+17787C>T | |
| XM_006717923.2:c.-334+17787C>T | XP_006717986.1:n.-334+17787C>T | |
| XM_006717924.2:c.-256+17787C>T | XP_006717987.1:n.-256+17787C>T | |
| XM_006717925.2:c.-337+17787C>T | XP_006717988.1:n.-337+17787C>T | |
| XM_005269988.3:c.-337+17787C>T | XP_005270045.1:n.-337+17787C>T | |
| XM_006717923.3:c.-334+17787C>T | XP_006717986.1:n.-334+17787C>T | |
| XM_006717924.3:c.-256+17787C>T | XP_006717987.1:n.-256+17787C>T | |
| XM_006717925.3:c.-337+17787C>T | XP_006717988.1:n.-337+17787C>T | |
| NM_020338.4:c.-337+17787C>T MANE Select | NP_065071.1:n.-337+17787C>T |